Article
Mutations in the NRG1 gene are associated with Hirschsprung disease.
Human genetics - 1 Jan 2012
Tang Clara Sze-Man, Ngan Elly Sau-Wai, Tang Wai-Kiu, So Man-Ting, Cheng Guo, Miao Xiao-Ping, Leon Thomas Yuk-Yu, Leung Brian Man-Chun, Hui Kenneth-Jeremy W S, Lui Vincent Hang-Chai, Chen Yan, Chan Ivy Hau-Yee, Chung Patrick Ho-Yu, Liu Xue-Lai, Wong Kenneth Kak-Yuen, Sham Pak-Chung, Cherny Stacey S, Tam Paul Kwong-Hang, Garcia-Barcelo Maria-Mercè
Abstract excerpt
Hirschsprung disease (HSCR, congenital colon aganglionosis) is a relatively common complex genetic condition caused by abnormal development of the enteric nervous system (ENS). Through a recent genome-wide association study conducted on Chinese HSCR patients, we identified a new HSCR contributing locus, neuregulin 1 (NRG1; 8p12), a gene known to be involved in the development of the ENS. As genes in which...
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